Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Synostosis of ... |
OMIM:102510 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... |
OMIM:610947 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Cleft palate, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes... |
ORPHA:2839 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Cryptorchidism, Hypogonadism |
OMIM:601794 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Spina bifida occulta,... |
OMIM:613686 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:232400 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hepatic f... |
ORPHA:280356 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... |
OMIM:603471 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Oral cleft, Large hands, Synophrys, Decreased testicular size, Cryptorchidism, P... |
ORPHA:85287 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Cryptorchidism... |
ORPHA:363741 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
Coloboma Of Macula And Skeletal Anomalies |
|
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... |
OMIM:216800 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cer... |
OMIM:184400 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Splenomegaly, ... |
OMIM:300635 |
Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Retinal coloboma, Abnormality of the dentitio... |
OMIM:258865 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Absence of the sacrum, Sirenomelia |
ORPHA:3169 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:79234 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... |
OMIM:616278 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Short palpebral fissure, Retinal coloboma, Optic nerve hypoplasia, Retinal detach... |
OMIM:615113 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... |
ORPHA:446 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, High palate, Bulbous nose, Hydrocephalus, Macrocephaly, Malar ... |
ORPHA:2180 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Kapur-Toriello Syndrome |
|
Cleft upper lip, Hypoplastic labia majora, Microphthalmia, Joint contracture of the hand, Cleft p... |
OMIM:244300 |
Bresek Syndrome |
|
Plagiocephaly, Hydrocephalus, Convex nasal ridge, Protruding ear, Cleft palate, Alopecia, Hemiver... |
ORPHA:85284 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin ... |
ORPHA:79085 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multip... |
ORPHA:66637 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... |
OMIM:610017 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... |
OMIM:607765 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... |
OMIM:271500 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation |
OMIM:223200 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Microphthalmia, Cleft palate, Micrognathia, Anophthalmia, Prominen... |
OMIM:221950 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Downslan... |
OMIM:200990 |
Al Kaissi Syndrome |
|
Intrauterine growth retardation, Abnormal pinna morphology, High, narrow palate, Short stature, B... |
OMIM:617694 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal vertebral mor... |
ORPHA:163665 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... |
ORPHA:1797 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... |
OMIM:604864 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Skin rash, Splenomega... |
OMIM:603552 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased acid sphingomyelin... |
OMIM:607616 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Talipes equinovarus, Holoprosencephaly, Anencephaly, Hyperlordos... |
ORPHA:63259 |
Mmep Syndrome |
|
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Plagiocephaly, Hypoplastic vertebral bodies, Hypodontia,... |
ORPHA:2916 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... |
OMIM:182940 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Rotor Syndrome |
|
Abnormal enzyme/coenzyme activity, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Decreased HDL cholesterol concentration, ... |
OMIM:604367 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia, Hepatic ste... |
OMIM:615238 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... |
OMIM:183802 |
Renal Agenesis, Bilateral |
|
Cleft palate, Tracheoesophageal fistula, Sirenomelia, Abnormal morphology of female internal geni... |
ORPHA:1848 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... |
ORPHA:567983 |
Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density, Dolichocephaly, Fragile nails, Microdontia, Frontal ... |
OMIM:190320 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Upslanted palpebral fissure, Short philtrum, Syn... |
OMIM:300963 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular prognathia, Delayed... |
ORPHA:1327 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Short stature, Depressed nasal bridge, Micrognathia,... |
OMIM:613849 |
Pyle Disease |
|
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... |
OMIM:265900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Gorlin Syndrome |
|
Hydrocephalus, Abnormality of the sense of smell, Hemivertebrae, Vertebral fusion, Scoliosis, Car... |
ORPHA:377 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... |
OMIM:619256 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Split foot, Short palpebral fissure, Oral cleft, M... |
OMIM:601349 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:237800 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Micromelia, Spina bifida occulta, Pectus carin... |
ORPHA:64755 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microphthalmia, Coloboma |
OMIM:251505 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Macrocephaly, Sparse hair, Low hanging columella, Hyperconvex nail, Dolichocephaly... |
OMIM:619721 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Downturne... |
ORPHA:521308 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Rod-cone dystrophy, Micropenis, Syndactyly, Brachydactyly, Polydacty... |
OMIM:615983 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... |
ORPHA:1617 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly, Coloboma |
OMIM:613094 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Slender long bone, Spina bifida occulta, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... |
ORPHA:2840 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... |
OMIM:601016 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Anophthalmia, Polydactyly, Postaxial hand pol... |
OMIM:613885 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... |
OMIM:235555 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Hemivertebrae, Radioulnar synostosis, Short nose, Enamel agenesis, Lobar holoprosen... |
OMIM:614701 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Cryptorchidism... |
ORPHA:3080 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia, Scoliosis, Spina bifida occulta |
OMIM:231970 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Iris coloboma, N... |
ORPHA:1104 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus, Oligodactyly, Tarsal syno... |
ORPHA:2756 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, ... |
ORPHA:141333 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... |
ORPHA:435660 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Acrofacial Dysostosis, Palagonia Type |
|
Bulbous nose, Sparse hair, Short neck, Delayed skeletal maturation, Midface retrusion, Sparse lat... |
ORPHA:1787 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Single transverse palmar crease, Downslanted palpebral fissures, Sanda... |
OMIM:206920 |
Gonadal dysgenesis, xy type, with associated anomalies |
|
Cleft upper lip, Gonadal dysgenesis, Broad palm, Oral cleft, Broad foot, Acromelia |
OMIM:233430 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microretrognathia, Cleft palate, Retinal coloboma, Long philtrum, Downturned cor... |
OMIM:618571 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... |
OMIM:214950 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... |
OMIM:614608 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Postaxial hand polydactyl... |
ORPHA:945 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase... |
ORPHA:79303 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Cam... |
ORPHA:2311 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice |
ORPHA:890 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Webbed neck, ... |
OMIM:263540 |
Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... |
OMIM:601829 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure |
OMIM:143500 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Micropenis, Retinal col... |
OMIM:616546 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:614120 |
Rhizomelic Chondrodysplasia Punctata |
|
Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphysis morphology, Abn... |
ORPHA:177 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Cranioectodermal Dysplasia |
|
Taurodontia, Hypodontia, Sparse hair, Craniosynostosis, Dolichocephaly, Abnormality of the dentit... |
ORPHA:1515 |
Hartsfield Syndrome |
|
Microphthalmia, Cleft palate, Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, T... |
ORPHA:2117 |
Palant Cleft Palate Syndrome |
|
Cleft palate, Upslanted palpebral fissure, Contracture of the proximal interphalangeal joint of t... |
OMIM:260150 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mell... |
ORPHA:435651 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Lacrimal duct aplasia, Median cleft lip, Split hand... |
DECIPHER:46 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... |
OMIM:614300 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Long philtrum, De... |
OMIM:157980 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly |
OMIM:614416 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... |
OMIM:617156 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip, Cryptorchidism |
ORPHA:1074 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Convex nasal ridge, Abnormal hair quantity, Severe short... |
ORPHA:2617 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... |
OMIM:611638 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin, Ascites, Elevated circulating alkaline phosp... |
OMIM:174050 |
Verheij Syndrome |
|
Growth delay, Short stature, Hemivertebrae, Microcephaly, Short neck, Scoliosis, Long philtrum, S... |
OMIM:615583 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... |
OMIM:618528 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... |
ORPHA:957 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Cleft palate, Retinal coloboma, Retinal dystrophy, Oral cleft, Iris coloboma, Hand... |
ORPHA:220493 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... |
ORPHA:1414 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... |
ORPHA:247598 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micropenis, Short ribs, Micrognathia, Micromelia, Postaxial hand pol... |
OMIM:241800 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... |
ORPHA:247585 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... |
OMIM:606069 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia |
ORPHA:181393 |
46,Xx Sex Reversal 4 |
|
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis |
OMIM:617480 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Drumstick terminal phalanges, Hydrocephalus, Cleft palate, Thin vermil... |
OMIM:612938 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure |
OMIM:177000 |
Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... |
ORPHA:1307 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Osteopenia, Scoliosis, ... |
OMIM:619718 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Long eye... |
OMIM:156200 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Preaxial hand polydactyly, Cleft palate |
OMIM:601420 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... |
ORPHA:370 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Diabetes mellitus, Insulin res... |
OMIM:615381 |
Tibial Hemimelia |
|
Cleft palate, Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equin... |
ORPHA:93322 |
Steinfeld Syndrome |
|
Holoprosencephaly, Hypoplasia of the radius, Retinal coloboma, Bifid uvula, Hypoplasia of the uln... |
OMIM:184705 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Hemivertebrae, Short neck, Rhizomelia, Mi... |
OMIM:302960 |
Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Sparse eyelashes, Sparse eyebrow, Cutaneous... |
OMIM:225000 |
Three M Syndrome 1 |
|
Increased vertebral height, Pectus excavatum, Clinodactyly of the 5th finger, Short ribs, Short n... |
OMIM:273750 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporo... |
ORPHA:93351 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis |
OMIM:309620 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... |
ORPHA:2791 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Palpe... |
OMIM:607323 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly |
ORPHA:294975 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... |
OMIM:300431 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly, Hypogonadism |
OMIM:615988 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Holoprosencephaly, Short femur, Amelia, Anterior encephalocele, Bilateral cleft ... |
OMIM:601357 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Splenomegaly, Hepatosplenomegaly, Recurren... |
OMIM:613101 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta |
ORPHA:2289 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Talipes equinovarus, Macroglossia, Micropenis, Hypospadias, Long philtrum, Downslant... |
OMIM:141750 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Abnormality of the dentiti... |
OMIM:615982 |
Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... |
OMIM:300602 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... |
OMIM:211960 |
Doors Syndrome |
|
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Abnormality of the... |
ORPHA:79500 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single transverse palmar c... |
ORPHA:915 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck |
OMIM:616583 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... |
OMIM:184255 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Reduced bone mineral density, Short neck, Spina bifida occulta, Genu valgum, Short thorax |
ORPHA:2983 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Micrognathia, Hemivertebrae, Prominent occip... |
OMIM:220210 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... |
OMIM:616860 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... |
OMIM:277950 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... |
ORPHA:93284 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Lumbar hyperlordosis, Back pain, Clinodactyly of the 5th finger, Hypoplastic ili... |
OMIM:169550 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... |
OMIM:178110 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Hirsutism, Low hanging columella, Short stature, Hemivertebrae, Microcephaly, Unilateral micropht... |
OMIM:619318 |
Phenobarbital Embryopathy |
|
Hypospadias, Brachydactyly, Epicanthus, Unilateral cleft lip, Aplasia/Hypoplasia of fingers |
ORPHA:1919 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Hyper... |
ORPHA:528 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Coloboma, Microphthalmia, Ptosis |
OMIM:120433 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism |
OMIM:615989 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Scoliosis, Abn... |
ORPHA:3219 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Partial duplication of thumb ... |
OMIM:601165 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Rocker bottom foot, Microphthalmia |
OMIM:616570 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida, Male pseudohermaphroditism, Narrow palpebral fissure, Bilateral microphtha... |
OMIM:600122 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:619481 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Ab... |
OMIM:251230 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Joint contract... |
OMIM:601668 |
Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... |
ORPHA:1406 |
Cenani-Lenz Syndrome |
|
Ptosis, Ectropion, Hypodontia, High, narrow palate, Finger syndactyly, Hypoplasia of the radius, ... |
ORPHA:3258 |
Frank-Ter Haar Syndrome |
|
Avascular necrosis, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Genu recurvatum, Wide... |
ORPHA:137834 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Patchy alopecia, Short mandibular rami, Microtia, Poliosis, Delaye... |
OMIM:141300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
Kbg Syndrome |
|
Cleft palate, Short neck, Macrodontia, Bilateral conductive hearing impairment, Widely-spaced max... |
ORPHA:2332 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Dentinogenesis imperfecta, Short stature, Short philtrum, Platy... |
ORPHA:71267 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the tongue, Overfolded helix, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
Filippi Syndrome |
|
Hypertrichosis, Postnatal growth retardation, Hypodontia, Low hanging columella, Sparse hair, Thi... |
OMIM:272440 |
Intellectual Disability, Birk-Barel Type |
|
Protruding ear, High, narrow palate, Dolichocephaly, Broad nasal tip, Micrognathia, Short philtru... |
ORPHA:166108 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Congenital Disorder Of Deglycosylation 2 |
|
High palate, Ulnar deviation of the hand, Genu recurvatum, Macroglossia, Bilateral talipes equino... |
OMIM:619775 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Narrow mouth, Talipes equinovarus, Short tibia, Short philtrum, Mic... |
OMIM:201170 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyebrow, Microtia, Sparse eyelashes, Hemivertebrae, Microcephaly, Short stature, Scoliosis... |
ORPHA:370079 |
Non-Distal Trisomy 10Q |
|
High palate, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Everted lower lip vermilio... |
ORPHA:1695 |
Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Wide mouth, Cleft upper lip, Macrocephaly, Thick eyebrow, Cleft pa... |
ORPHA:1394 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... |
ORPHA:264580 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Median cleft lip |
OMIM:300484 |
Orofaciodigital Syndrome Xiv |
|
Cleft palate, Lobulated tongue, Optic disc coloboma, Anteriorly placed anus, Postaxial polydactyl... |
OMIM:615948 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... |
ORPHA:2089 |
3C Syndrome |
|
Kyphosis, Hydrocephalus, Macrocephaly, High, narrow palate, Cleft palate, Short stature, Depresse... |
ORPHA:7 |
Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Abnormal bone ossificat... |
ORPHA:2563 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Sprengel anomaly, Rib fusion, Coxa vara, Talipes equinovarus, Apla... |
ORPHA:1988 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... |
ORPHA:79302 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Persistence of primary teeth, Talipes equinovarus, Macroglossia, Ev... |
OMIM:610253 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Vertebral fusion, Sacral dimple |
OMIM:618845 |
Developmental And Epileptic Encephalopathy 80 |
|
High palate, Wide mouth, Short distal phalanx of finger, Talipes equinovarus, Upslanted palpebral... |
OMIM:618580 |
Distal Monosomy 7Q36 |
|
Wide mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly,... |
ORPHA:1636 |
Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Telecanthus, ... |
ORPHA:1777 |
Endosteal Hyperostosis, Worth Type |
|
Facial palsy, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morpholog... |
ORPHA:2790 |
Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Coxa vara, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... |
OMIM:259450 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Occipital encephalocele, Anencephaly, Dilated... |
OMIM:614175 |
Acrofacial Dysostosis, Catania Type |
|
Single transverse palmar crease, Short palm, Spina bifida occulta |
OMIM:101805 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... |
ORPHA:166024 |
Hall-Riggs Syndrome |
|
Joint stiffness, Wide mouth, Short stature, Microcephaly, Platyspondyly, Wide nasal bridge, Delay... |
ORPHA:2107 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Cholestasis, Hyperbilirubinemia |
OMIM:609734 |
Acrofrontofacionasal Dysostosis |
|
High palate, Short distal phalanx of finger, Cleft palate, Everted lower lip vermilion, Bifid scr... |
ORPHA:1784 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Joint stiffness, Everted lower lip vermilion, Short stature, Ab... |
ORPHA:1466 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Braddock Syndrome |
|
Intrauterine growth retardation, Short stature, Overfolded helix, Micrognathia, Hemivertebrae, Sh... |
ORPHA:52047 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dental malocclusion, Dislocated radial head, Kyphoscoliosis, High ... |
OMIM:612350 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint |
ORPHA:1570 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Do... |
ORPHA:3352 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, H... |
ORPHA:79240 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Mpi-Cdg |
|
Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal enzyme/coenzyme a... |
ORPHA:79319 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Micrognathia, Acromelia of the lower limbs, Amelia, Oral cleft, Amelia invol... |
ORPHA:1027 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Hypertrichosis, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short n... |
OMIM:213980 |
Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate, Hand polydactyly |
OMIM:236110 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Upslanted palpebral fissure, ... |
ORPHA:1794 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Distichiasis... |
OMIM:119580 |
Down Syndrome |
|
Anal atresia, Narrow mouth, Narrow palate, Clinodactyly of the 5th finger, Macroglossia, Upslante... |
ORPHA:870 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... |
OMIM:619111 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Scoliosis, Spina bifida occulta, Bicoronal synostosis, Lambdoidal cranios... |
OMIM:618736 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Broad hallux, Abnormal optic disc morphology, Unilateral ptosis, Microphthalmia, C... |
ORPHA:508498 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cryptorchidism, Cleft palate,... |
OMIM:603671 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Protruding ear, Supernumerary tooth, Sparse hair, Short stature, Osteopenia, Scoliosis, Avascular... |
OMIM:190351 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Ring Chromosome 22 Syndrome |
|
2-3 toe syndactyly, Thick eyebrow, Large hands, Epicanthus, Protruding tongue, Thick vermilion bo... |
ORPHA:1446 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... |
OMIM:607597 |
Autosomal Dominant Robinow Syndrome |
|
Macrocephaly, Alopecia, Depressed nasal bridge, Hemivertebrae, Short neck, Short philtrum, Finger... |
ORPHA:3107 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Sparse hair, Cleft palate, Dry hair, Microdontia, Carious teeth, Micro... |
OMIM:164200 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
Otodental Dysplasia |
|
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... |
OMIM:166750 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Sensorineural hearing impairment, Kyphoscoliosis, Hirsutism, Microphthalmia, Joint contracture of... |
OMIM:214150 |
Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Wide mouth, Narrow mouth, Hydrocephalus, Hypoplasia of peni... |
ORPHA:3376 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Sparse hair, Thin vermilion border, Thin calvarium, Micrognathi... |
OMIM:601812 |
Bardet-Biedl Syndrome 7 |
|
Narrow mouth, 2-3 toe syndactyly, Rod-cone dystrophy, Postaxial polydactyly, Polydactyly, Clinoda... |
OMIM:615984 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... |
OMIM:615990 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Depressed nasal bridge, Hemiverte... |
OMIM:268310 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Tooth agenesis, Tooth malposition, Sparse hair, Alopecia, Sparse body hair,... |
ORPHA:2722 |
Pierpont Syndrome |
|
Uplifted earlobe, Microphthalmia, Long upper lip, Malar flattening, Everted lower lip vermilion, ... |
ORPHA:487825 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Dental crowding, Macrocephaly, Low hanging columella, Highly arched eyeb... |
OMIM:618825 |
Pierpont Syndrome |
|
Prominent fingertip pads, Microphthalmia, Deep plantar creases, Prominent median palatal raphe, D... |
OMIM:602342 |
Zechi-Ceide Syndrome |
|
Cleft upper lip, Short distal phalanx of finger, Short palpebral fissure, Cleft palate, Oligodont... |
OMIM:612916 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... |
OMIM:619484 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phospha... |
ORPHA:2088 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Cousin Syndrome |
|
Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Rhizomelia, Absent proximal finger flex... |
OMIM:260660 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cirrhosis, Hepatic fib... |
OMIM:602579 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:619386 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Scoliosis, Asymmetry of the thorax |
ORPHA:2128 |
Monosomy 18P |
|
Abnormal antihelix morphology, Cleft palate, Alopecia, Short philtrum, Short neck, Carious teeth,... |
ORPHA:1598 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... |
ORPHA:234 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholestero... |
OMIM:615947 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... |
OMIM:238600 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Retinal coloboma, Iris coloboma, Microphthalmia, Hypoplastic labia majora |
ORPHA:2328 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Macrocephaly, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermili... |
OMIM:228560 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Micromelia, Anencephaly, Unilateral cleft ... |
ORPHA:63862 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancre... |
ORPHA:79086 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Wildervanck Syndrome |
|
Short neck, Pseudopapilledema, Fused cervical vertebrae, Meningocele, Facial palsy |
ORPHA:3456 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased... |
ORPHA:444490 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Macrocephaly, Thick eyebrow, Everted lower lip vermilion, Depre... |
ORPHA:2025 |
Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Cleft palate, Long philtrum, Telecanthus, Epicanthus, Optic atrophy, Abnormal eye... |
ORPHA:1252 |
Osteoglosphonic Dysplasia |
|
Protruding ear, Abnormal bone ossification, Tooth agenesis, Severe short stature, Craniosynostosi... |
ORPHA:2645 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Insulin resista... |
ORPHA:90970 |
Bartsocas-Papas Syndrome 1 |
|
Ablepharon, Ankyloblepharon, Cleft palate, Absent thumb, Ambiguous genitalia, Oral synechia, Cica... |
OMIM:263650 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, Ins... |
ORPHA:79083 |
Trichorhinophalangeal Syndrome, Type I |
|
Sparse hair, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Accelerated bone ... |
OMIM:190350 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Abnormal helix morphology, Sparse hair, Alopecia, Abnormal toenail... |
ORPHA:1005 |
Joubert Syndrome 1 |
|
Macroglossia, Retinal dysplasia, Optic disc coloboma, Retinal dystrophy, Postaxial hand polydacty... |
OMIM:213300 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip vermilion, Ope... |
ORPHA:819 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... |
OMIM:300244 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyl... |
OMIM:611561 |
Meckel Syndrome 13 |
|
Micrognathia, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Pectus carinatum, ... |
OMIM:184260 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, G... |
ORPHA:412 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Short stature, Retrognathia, Depressed nasal bridge, Platyspondyly, Sc... |
ORPHA:166272 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... |
ORPHA:1106 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Large earlobe, Bulbous nose, Prominent ear helix, Thick eyebrow, Low an... |
ORPHA:411986 |
Trisomy 4P |
|
Abnormal antihelix morphology, Low anterior hairline, Thick eyebrow, Short stature, Depressed nas... |
ORPHA:1738 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Hydrolethalus |
|
Hydrocephalus, Cleft palate, Micrognathia, Gingival cleft, Micromelia, Bifid uvula, Anencephaly, ... |
ORPHA:2189 |
Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Micromelia, Abnormal... |
ORPHA:1350 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder morphology, Abnormal pa... |
ORPHA:1277 |
Trisomy 8Q |
|
High palate, Myelomeningocele, Hypoplasia of penis, Cleft palate, Everted lower lip vermilion, Up... |
ORPHA:1752 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hypoplastic cervica... |
OMIM:222600 |
Warburg Micro Syndrome 1 |
|
Kyphoscoliosis, Narrow mouth, Hypertrichosis, Microphthalmia, Short stature, Thin vermilion borde... |
OMIM:600118 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... |
ORPHA:2911 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma |
OMIM:107550 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Leber Congenital Amaurosis 9 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... |
OMIM:608553 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Conjugated... |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... |
OMIM:601847 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Depressed nasal bridge, Hemivertebrae, Short nose, Umbilical hernia, Mandibular prognathia, Widel... |
OMIM:301040 |
Cyanosis And Hepatic Disease |
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Abnormal abdomen morphology, Hepatitis |
OMIM:219400 |
Bardet-Biedl Syndrome 10 |
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Retinal dystrophy, Polydactyly, Rod-cone dystrophy, Hypogonadism |
OMIM:615987 |
Mosaic Trisomy 9 |
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High palate, Intrauterine growth retardation, Bulbous nose, Webbed neck, Cleft palate, Micrognath... |
ORPHA:99776 |
Progressive Pseudorheumatoid Dysplasia |
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Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
Anauxetic Dysplasia 2 |
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Nail dysplasia, Relative macrocephaly, Hypodontia, Flexion contracture, Macroglossia, Sparse hair... |
OMIM:617396 |
Lowry-Maclean Syndrome |
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Convex nasal ridge, Cleft palate, Craniosynostosis, Microcephaly, Delayed eruption of teeth, Intr... |
OMIM:600252 |
Cleidocranial Dysplasia |
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Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... |
ORPHA:1452 |
Codas Syndrome |
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Delayed skeletal maturation, Sensorineural hearing impairment, Coronal cleft vertebrae, Short sta... |
ORPHA:1458 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
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Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
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Hepatic steatosis |
OMIM:613282 |
Metatropic Dysplasia |
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Narrow chest, Joint stiffness, Hydrocephalus, Kyphosis, Coarse metaphyseal trabecularization, Hal... |
ORPHA:2635 |
Juberg-Hayward Syndrome |
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Cleft upper lip, Abnormality of toe, Highly arched eyebrow, Limited elbow extension, Anteriorly p... |
OMIM:216100 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Hypoplastic toenails, Sparse hair, Sparse eyebrow, Craniosynostosis, Sparse eyelashes, Depressed ... |
OMIM:616901 |
Craniometadiaphyseal Dysplasia |
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High palate, Low-set ears, Wide anterior fontanel, Sclerosis of skull base, Macrocephaly, Malar f... |
OMIM:269300 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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High palate, Dental crowding, Sensorineural hearing impairment, Hypertrichosis, Relative macrocep... |
OMIM:616354 |
Robinow Syndrome |
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Macrocephaly, Triangular mouth, Broad alveolar ridges, Depressed nasal bridge, Broad nasal tip, H... |
ORPHA:97360 |
Mohr Syndrome |
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High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... |
OMIM:252100 |
Amelogenesis Imperfecta |
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Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Orofaciodigital Syndrome Xviii |
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Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
Carpenter Syndrome 1 |
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Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Optic atrophy, Sagittal crani... |
OMIM:201000 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Hyponatremia, Prolonged n... |
ORPHA:199296 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Reduced bone mineral density, Spina bifida occulta, Slender long bone, Optic atrophy, Cubitus val... |
ORPHA:1185 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
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Large fleshy ears, Severe short stature, Flexion contracture, Generalized hypoplasia of dental en... |
OMIM:203550 |
Tetrasomy 12P |
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Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil... |
ORPHA:884 |
Osteogenesis Imperfecta, Type Vi |
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Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Verte... |
OMIM:613982 |
Joubert Syndrome 16 |
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Encephalocele, Molar tooth sign on MRI, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
Porphyria Cutanea Tarda, Type I |
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Eczema, Hepatic fibrosis |
OMIM:176090 |
Lecithin:Cholesterol Acyltransferase Deficiency |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Joubert Syndrome 14 |
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Hydrocephalus, Microphthalmia, Postaxial polydactyly, Morning glory anomaly, Short philtrum, Colo... |
OMIM:614424 |
Acrocraniofacial Dysostosis |
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Short distal phalanx of finger, Pectus excavatum, Flared iliac wing, Craniosynostosis, Partial du... |
ORPHA:949 |
Witkop Syndrome |
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Sparse hair, Agenesis of permanent teeth, Microdontia of primary teeth, Ridged nail, Fine hair, C... |
OMIM:189500 |
Fetal Cytomegalovirus Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:294 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Humero-Radial Synostosis |
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Elbow ankylosis, Abnormality of the wrist, Tarsal synostosis, Meningocele, Aplasia/Hypoplasia of ... |
ORPHA:3265 |
Temple Syndrome |
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Maturity-onset diabetes of the young, Hypertriglyceridemia, Recurrent otitis media, Hypercholeste... |
OMIM:616222 |
Focal Segmental Glomerulosclerosis 1 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Endocrine-Cerebroosteodysplasia |
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Hydrocephalus, Cleft palate, Micromelia, Ambiguous genitalia, Sandal gap, Microphallus, Small scr... |
OMIM:612651 |
Metatropic Dysplasia |
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Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Mucopolysaccharidosis, Type Iva |
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Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Incontinentia Pigmenti |
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Sparse hair, Alopecia, Hemivertebrae, Coarse hair, Delayed eruption of teeth, Hypoplasia of the f... |
OMIM:308300 |
Abruzzo-Erickson Syndrome |
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